Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent

• DOI: 10.1080/08880018.2021.1906802
• Publication Date: 2021-04-26T23:12:52Z
• Authors: Upendra Mahat; Nila Mistry Ambani; Seth J. Rotz; Kadakkal Radhakri...
• Keywords: Immune Dysregulation; Penetrance; Expressivity; Haploinsufficiency; Immune checkpoint; CTL*; CTLA-4; Common Variable Immunodeficiency

Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and regulatory function. CTLA4 haploinsufficiency (CTLA4 HI) leads to hyperactivation, immunodeficiency variable degree of dysregulation. Furthermore, HI predisposes affected individuals development various cancers. Less well understood the penetrance expressivity mutations. We describe five members a single family with heterozygous splice site mutation c.458-1G > C, previously shown result in CTLA-4 HI, who presented The host, environmental epigenetic factors affecting mutations merits further investigation.